Yis, Uluc and Uyanik, Gokhan and Kurul, Semra and Dirik, Eray and Ozer, Erdener and Gross, Claudia and Hehr, Ute (2007) A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 11 (1). pp. 46-49. ISSN 1090-3798, 1532-2130
Full text not available from this repository. (Request a copy)Abstract
Walker-Warburg syndrome (WWS), the most severe alpha-dystroglycanopathy, is characterized by brain and eye anomalies, and congenital muscular dystrophy (CMD). So far at least four genes (POMT1, POMT2, Fukutin, and FKRP gene) have been implicated in WWS, accounting for about 30% of all cases. We report a male patient with WWS resulting from a homozygous nonsense mutation (R514X) in the POMT1 gene. The patient had congenital hydrocephalus which was detected at 29 weeks of gestation. A brain MRI obtained after birth revealed type II lissencephaly, hydrocephalus, and pontocerebellar hypoplasia. The case also exhibited severe ocular malformations and muscular hypotonia due to CMD. (c) 2006 Published by Elsevier Ltd. on behalf of European Paediatric Neurology Society.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CONGENITAL MUSCULAR-DYSTROPHIES; MENTAL-RETARDATION; DYSTROGLYCAN; PHENOTYPE; DISRUPTION; GENE; congenital muscular dystrophy; alpha-dystroglycanopathy; POMT1 gene |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik Medicine > Lehrstuhl für Neurologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 12 Jan 2021 07:20 |
| Last Modified: | 12 Jan 2021 07:20 |
| URI: | https://pred.uni-regensburg.de/id/eprint/33410 |
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